Variant report

Variant	rs7102350
Chromosome Location	chr11:64659837-64659838
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:64659817-64664484	K562	blood:	n/a	n/a
2	POLR2A	chr11:64659833-64662055	K562	blood:	n/a	n/a
3	POLR2A	chr11:64655234-64662268	HepG2	liver:	n/a	n/a
4	MAX	chr11:64659774-64662203	A549	lung:	n/a	chr11:64661547-64661557
5	POLR2A	chr11:64659812-64660242	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr11:64659796-64660283	HepG2	liver:	n/a	n/a
7	POLR2A	chr11:64659596-64659981	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	11:64620201-64626490..11:64658316-64660295	Hela-S3	cervix:
2	chr11:64544093..64548175-chr11:64656540..64660044,4	K562	blood:
3	chr11:64542430..64545109-chr11:64658977..64660541,2	MCF-7	breast:
4	11:64544826-64559210..11:64658316-64660295	GM12878	blood:

Variant related genes	Relation type
ENSG00000203400	TF binding region
EHD1	TF binding region
MIR194-2	TF binding region
ENSG00000267804	TF binding region
MIR192	TF binding region
ENSG00000269290	Chromatin interaction
ENSG00000269038	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000110047	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10488702	1.00[CEU][hapmap]
rs11827610	1.00[CEU][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12286941	0.94[EUR][1000 genomes]
rs17146407	1.00[CEU][hapmap]
rs17146506	1.00[CEU][hapmap];0.85[MEX][hapmap]
rs17146508	1.00[CEU][hapmap]
rs17146511	1.00[CEU][hapmap];0.85[MEX][hapmap]
rs17146515	1.00[CEU][hapmap]
rs17146519	1.00[CEU][hapmap];0.85[MEX][hapmap]
rs17146528	1.00[CEU][hapmap];0.85[MEX][hapmap]
rs17146539	1.00[CEU][hapmap]
rs17146541	1.00[CEU][hapmap]
rs17146543	1.00[CEU][hapmap];0.85[MEX][hapmap]
rs17146544	1.00[CEU][hapmap];0.85[MEX][hapmap]
rs17146569	1.00[CEU][hapmap]
rs17146575	1.00[CEU][hapmap];0.85[MEX][hapmap]
rs35079323	1.00[CEU][hapmap];0.85[MEX][hapmap];0.89[TSI][hapmap];0.94[EUR][1000 genomes]
rs35115827	0.91[EUR][1000 genomes]
rs3867127	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs3888184	1.00[CEU][hapmap]
rs4320955	1.00[CEU][hapmap];0.85[MEX][hapmap]
rs57365630	0.94[EUR][1000 genomes]
rs59677833	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60711419	0.91[EUR][1000 genomes]
rs61741079	0.94[EUR][1000 genomes]
rs61742063	0.94[EUR][1000 genomes]
rs628595	1.00[CEU][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes]
rs643949	0.83[EUR][1000 genomes]
rs7103328	1.00[CEU][hapmap];0.85[MEX][hapmap]
rs7113751	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7123368	1.00[CEU][hapmap]
rs7482817	1.00[CEU][hapmap]
rs7942472	1.00[CEU][hapmap];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
2	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
3	nsv897700	chr11:64447420-64701030	Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1071 gene(s)	inside rSNPs	diseases
4	nsv897704	chr11:64584987-64701030	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
5	nsv897705	chr11:64591679-64701030	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
6	nsv897706	chr11:64591679-64721908	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
7	nsv897707	chr11:64600002-64701030	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
8	nsv897708	chr11:64602757-64695271	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
9	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
10	nsv555208	chr11:64645119-64771179	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1029 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64655800-64660800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:64655800-64663200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:64655800-64664600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr11:64655800-64672800	Weak transcription	Psoas Muscle	Psoas
5	chr11:64656000-64660600	Weak transcription	Left Ventricle	heart
6	chr11:64656000-64661400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr11:64656000-64661400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr11:64656000-64661400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr11:64656000-64661600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr11:64656000-64661600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr11:64656000-64661600	Weak transcription	Esophagus	oesophagus
12	chr11:64656000-64661600	Weak transcription	Lung	lung
13	chr11:64656000-64662000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr11:64656000-64662000	Weak transcription	Brain Germinal Matrix	brain
15	chr11:64656000-64662000	Weak transcription	Brain Hippocampus Middle	brain
16	chr11:64656000-64662000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr11:64656000-64662000	Weak transcription	Ovary	ovary
18	chr11:64656000-64662000	Weak transcription	NHLF	lung
19	chr11:64656000-64662200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:64656000-64662200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr11:64656000-64662200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr11:64656000-64662200	Weak transcription	Brain Substantia Nigra	brain
23	chr11:64656000-64662200	Weak transcription	Thymus	Thymus
24	chr11:64656000-64662400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:64656000-64663000	Weak transcription	Primary T cells from cord blood	blood
26	chr11:64656000-64663200	Weak transcription	Brain Angular Gyrus	brain
27	chr11:64656000-64663600	Weak transcription	Brain Anterior Caudate	brain
28	chr11:64656000-64663800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:64656000-64664000	Weak transcription	Colon Smooth Muscle	Colon
30	chr11:64656000-64664200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr11:64656000-64664400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr11:64656000-64664600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr11:64656000-64665600	Weak transcription	HMEC	breast
34	chr11:64656000-64674200	Weak transcription	NH-A	brain
35	chr11:64656000-64677800	Weak transcription	HUVEC	blood vessel
36	chr11:64656000-64683200	Weak transcription	HSMM	muscle
37	chr11:64656000-64683400	Weak transcription	Right Atrium	heart
38	chr11:64656200-64661400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr11:64656200-64661400	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr11:64656200-64661400	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr11:64656200-64661600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr11:64656200-64662000	Weak transcription	Dnd41	blood
43	chr11:64656400-64660000	Weak transcription	Fetal Thymus	thymus
44	chr11:64656400-64661000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr11:64656400-64661200	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr11:64656400-64661400	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr11:64656400-64661400	Weak transcription	GM12878-XiMat	blood
48	chr11:64656400-64662200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr11:64656400-64663400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:64656600-64660600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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